Canonical Allele Identifier: CA375644027

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504689-G-T
• MyVariant Identifiers: chr9:g.139399141G>T (hg19) ; chr9:g.136504689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504689G>T , CM000671.2:g.136504689G>T	GRCh38
NC_000009.11:g.139399141G>T , CM000671.1:g.139399141G>T	GRCh37
NC_000009.10:g.138518962G>T	NCBI36
NG_007458.1:g.46098C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.2809C>A
ENST00000651671.1:c.5002C>A MANE Select	ENSP00000498587.1:p.Pro1668Thr
ENST00000679595.1:c.5002C>A	ENSP00000506241.1:p.Pro1668Thr
ENST00000680133.1:c.4888C>A	ENSP00000505319.1:p.Pro1630Thr
ENST00000680218.1:c.4882C>A	ENSP00000505339.1:p.Pro1628Thr
ENST00000680668.1:c.4888C>A	ENSP00000506336.1:p.Pro1630Thr
ENST00000680778.1:c.2599C>A	ENSP00000506033.1:p.Pro867Thr
ENST00000680924.1:c.*2402C>A	ENSP00000506031.1:n.*2402C>A
ENST00000681135.1:c.*2611C>A	ENSP00000506636.1:n.*2611C>A
ENST00000681298.1:n.1815C>A
ENST00000681454.1:c.*4238C>A	ENSP00000505763.1:n.*4238C>A
ENST00000277541.6:c.5002C>A	ENSP00000277541.6:p.Pro1668Thr
ENST00000494783.1:n.157C>A
NM_017617.3:c.5002C>A	NP_060087.3:p.Pro1668Thr
XM_011518717.1:c.4303C>A	XP_011517019.1:p.Pro1435Thr
NM_017617.5:c.5002C>A MANE Select	NP_060087.3:p.Pro1668Thr
XM_011518717.2:c.4279C>A	XP_011517019.2:p.Pro1427Thr